Canonical Allele Identifier: CA372474445

Gene: PLEC

Linked Data

• dbSNP Id: rs1820556580
• gnomAD v4: 8-143916382-A-G
• MyVariant Identifiers: chr8:g.144990550A>G (hg19) ; chr8:g.143916382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916382A>G , CM000670.2:g.143916382A>G	GRCh38
NC_000008.10:g.144990550A>G , CM000670.1:g.144990550A>G	GRCh37
NC_000008.9:g.145062538A>G	NCBI36
NG_012492.1:g.65364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13571T>C	ENSP00000437303.2:p.Val4524Ala
ENST00000685198.1:c.13490T>C	ENSP00000510528.1:p.Val4497Ala
ENST00000687971.1:c.13157T>C	ENSP00000510788.1:p.Val4386Ala
ENST00000693060.1:c.13370T>C	ENSP00000510329.1:p.Val4457Ala
ENST00000345136.8:c.13439T>C MANE Select	ENSP00000344848.3:p.Val4480Ala
ENST00000527303.2:c.10139T>C	ENSP00000433982.2:p.Val3380Ala
ENST00000322810.8:c.13850T>C	ENSP00000323856.4:p.Val4617Ala
ENST00000345136.7:c.13439T>C	ENSP00000344848.3:p.Val4480Ala
ENST00000354589.7:c.13439T>C	ENSP00000346602.3:p.Val4480Ala
ENST00000354958.6:c.13373T>C	ENSP00000347044.2:p.Val4458Ala
ENST00000356346.7:c.13397T>C MANE Plus Clinical	ENSP00000348702.3:p.Val4466Ala
ENST00000357649.6:c.13451T>C	ENSP00000350277.2:p.Val4484Ala
ENST00000398774.6:c.13343T>C	ENSP00000381756.2:p.Val4448Ala
ENST00000436759.6:c.13520T>C	ENSP00000388180.2:p.Val4507Ala
ENST00000527096.5:c.13508T>C	ENSP00000434583.1:p.Val4503Ala
NM_000445.4:c.13520T>C	NP_000436.2:p.Val4507Ala
NM_201378.3:c.13397T>C	NP_958780.1:p.Val4466Ala
NM_201379.2:c.13373T>C	NP_958781.1:p.Val4458Ala
NM_201380.3:c.13850T>C	NP_958782.1:p.Val4617Ala
NM_201381.2:c.13343T>C	NP_958783.1:p.Val4448Ala
NM_201382.3:c.13439T>C	NP_958784.1:p.Val4480Ala
NM_201383.2:c.13451T>C	NP_958785.1:p.Val4484Ala
NM_201384.2:c.13439T>C	NP_958786.1:p.Val4480Ala
XM_005250976.2:c.13865T>C	XP_005251033.1:p.Val4622Ala
XM_005250978.2:c.13466T>C	XP_005251035.1:p.Val4489Ala
XM_005250979.3:c.13454T>C	XP_005251036.1:p.Val4485Ala
XM_005250980.3:c.13454T>C	XP_005251037.1:p.Val4485Ala
XM_005250981.2:c.13412T>C	XP_005251038.1:p.Val4471Ala
XM_005250982.2:c.13388T>C	XP_005251039.1:p.Val4463Ala
XM_005250983.2:c.13370T>C	XP_005251040.1:p.Val4457Ala
XM_005250984.3:c.13358T>C	XP_005251041.1:p.Val4453Ala
XM_006716588.2:c.13535T>C	XP_006716651.1:p.Val4512Ala
XM_006716589.2:c.13385T>C	XP_006716652.1:p.Val4462Ala
XM_006716590.2:c.13385T>C	XP_006716653.1:p.Val4462Ala
XM_011517130.1:c.13454T>C	XP_011515432.1:p.Val4485Ala
XM_011517131.1:c.13370T>C	XP_011515433.1:p.Val4457Ala
XM_011517132.1:c.10085T>C	XP_011515434.1:p.Val3362Ala
XM_005250976.4:c.13865T>C	XP_005251033.1:p.Val4622Ala
XM_005250978.3:c.13466T>C	XP_005251035.1:p.Val4489Ala
XM_005250979.4:c.13454T>C	XP_005251036.1:p.Val4485Ala
XM_005250980.4:c.13454T>C	XP_005251037.1:p.Val4485Ala
XM_005250981.3:c.13412T>C	XP_005251038.1:p.Val4471Ala
XM_005250982.4:c.13388T>C	XP_005251039.1:p.Val4463Ala
XM_005250984.5:c.13358T>C	XP_005251041.1:p.Val4453Ala
XM_006716588.3:c.13535T>C	XP_006716651.1:p.Val4512Ala
XM_006716590.3:c.13385T>C	XP_006716653.1:p.Val4462Ala
XM_011517130.2:c.13454T>C	XP_011515432.1:p.Val4485Ala
XM_011517131.2:c.13370T>C	XP_011515433.1:p.Val4457Ala
XM_011517132.2:c.10085T>C	XP_011515434.1:p.Val3362Ala
NM_000445.5:c.13520T>C	NP_000436.2:p.Val4507Ala
NM_201378.4:c.13397T>C MANE Plus Clinical	NP_958780.1:p.Val4466Ala
NM_201379.3:c.13373T>C	NP_958781.1:p.Val4458Ala
NM_201380.4:c.13850T>C	NP_958782.1:p.Val4617Ala
NM_201381.3:c.13343T>C	NP_958783.1:p.Val4448Ala
NM_201382.4:c.13439T>C	NP_958784.1:p.Val4480Ala
NM_201383.3:c.13451T>C	NP_958785.1:p.Val4484Ala
NM_201384.3:c.13439T>C MANE Select	NP_958786.1:p.Val4480Ala